Mutagenetix > Incidental Mutation

Incidental Mutation 'R9328:Efhc1'

706614

Institutional Source

Beutler Lab

Gene Symbol

Efhc1

Ensembl Gene

ENSMUSG00000041809

Gene Name

EF-hand domain (C-terminal) containing 1

Synonyms

1700029F22Rik, myoclonin1, mRib72-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21021850-21061065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21030598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 177 (Y177C)

Ref Sequence

ENSEMBL: ENSMUSP00000042343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038447]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038447
AA Change: Y177C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: Y177C

Domain	Start	End	E-Value	Type
DM10	93	198	2.74e-52	SMART
DM10	239	359	3.04e-59	SMART
DM10	416	520	8.05e-50	SMART
SCOP:d1sra__	538	646	2e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,272 (GRCm39)	T102A	probably benign	Het
1700109H08Rik	A	G	5: 3,632,161 (GRCm39)	K164E	possibly damaging	Het
2610042L04Rik	C	T	14: 4,350,013 (GRCm38)	Q74*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,256 (GRCm39)	H76L	probably benign	Het
Adgrb2	T	A	4: 129,915,363 (GRCm39)	M1381K	probably damaging	Het
Adgrv1	C	A	13: 81,620,523 (GRCm39)	D3975Y	probably damaging	Het
Ano10	C	T	9: 122,090,168 (GRCm39)	E382K	possibly damaging	Het
Ascc3	T	C	10: 50,535,015 (GRCm39)	V636A	probably damaging	Het
AU040320	T	C	4: 126,729,332 (GRCm39)	V498A	possibly damaging	Het
Bahcc1	C	T	11: 120,165,885 (GRCm39)	T1047I	possibly damaging	Het
BC004004	A	T	17: 29,501,682 (GRCm39)	T74S	possibly damaging	Het
Bend3	A	G	10: 43,387,419 (GRCm39)	D604G	possibly damaging	Het
Brinp3	T	A	1: 146,707,455 (GRCm39)	V373E	probably damaging	Het
Bsph2	A	T	7: 13,290,764 (GRCm39)	D38E	probably benign	Het
Castor1	T	C	11: 4,170,423 (GRCm39)	F140L	probably benign	Het
Catsperd	A	G	17: 56,965,074 (GRCm39)	I474V	possibly damaging	Het
Ccdc180	A	G	4: 45,902,447 (GRCm39)	N292S	possibly damaging	Het
Cd1d1	A	T	3: 86,905,459 (GRCm39)	V178E	possibly damaging	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Champ1	A	G	8: 13,929,392 (GRCm39)	K517E	probably damaging	Het
Chrna9	T	C	5: 66,128,569 (GRCm39)	F259S	probably damaging	Het
Chuk	A	T	19: 44,085,422 (GRCm39)	C241*	probably null	Het
Clns1a	A	G	7: 97,363,240 (GRCm39)	Y204C	probably benign	Het
Cplane1	A	G	15: 8,215,692 (GRCm39)	D416G	probably damaging	Het
Cyp2j7	A	T	4: 96,115,869 (GRCm39)	N192K	probably damaging	Het
Ddr2	A	G	1: 169,829,504 (GRCm39)	V250A	probably benign	Het
Dlgap2	A	G	8: 14,777,441 (GRCm39)	S229G	probably damaging	Het
Dmrt1	A	T	19: 25,523,231 (GRCm39)	H194L	probably damaging	Het
Dock7	A	T	4: 98,968,064 (GRCm39)	F138I		Het
Dsg2	T	C	18: 20,715,847 (GRCm39)	V263A	possibly damaging	Het
Dusp16	A	G	6: 134,716,902 (GRCm39)	L135P	probably damaging	Het
Dysf	A	G	6: 84,050,895 (GRCm39)	N414S	probably damaging	Het
Fam83e	A	T	7: 45,372,912 (GRCm39)	R174S	probably benign	Het
Fgf4	C	T	7: 144,416,664 (GRCm39)	L199F	probably damaging	Het
Fignl2	A	G	15: 100,951,271 (GRCm39)	L337P	unknown	Het
Gm4353	T	C	7: 115,682,724 (GRCm39)	R286G	probably damaging	Het
Gm5142	T	C	14: 59,416,126 (GRCm39)	S11G	probably benign	Het
Gpr151	A	G	18: 42,712,270 (GRCm39)	V136A	probably damaging	Het
Ift80	T	A	3: 68,847,483 (GRCm39)	I338F	probably damaging	Het
Itgb4	A	G	11: 115,880,625 (GRCm39)	S693G	probably benign	Het
Kif13a	T	A	13: 46,951,838 (GRCm39)	I812F	probably damaging	Het
Krit1	T	C	5: 3,862,577 (GRCm39)		probably null	Het
Mapk6	T	C	9: 75,305,252 (GRCm39)	D55G	possibly damaging	Het
Matn3	A	G	12: 9,002,033 (GRCm39)	I82V	possibly damaging	Het
Mecom	T	A	3: 30,063,994 (GRCm39)	D32V	unknown	Het
Nacad	T	C	11: 6,552,417 (GRCm39)	H258R	possibly damaging	Het
Ndufaf5	T	A	2: 140,030,752 (GRCm39)	S213T	possibly damaging	Het
Nphp1	C	T	2: 127,582,892 (GRCm39)	D674N	possibly damaging	Het
Nsmaf	A	G	4: 6,426,412 (GRCm39)	L250P	probably damaging	Het
Ogdh	T	C	11: 6,297,838 (GRCm39)	S571P	probably benign	Het
Or1e31	T	C	11: 73,690,478 (GRCm39)	Y35C	probably damaging	Het
Or51i2	T	A	7: 103,689,268 (GRCm39)	D88E		Het
Or8g27	T	C	9: 39,129,175 (GRCm39)	I174T	probably damaging	Het
Osbpl11	A	G	16: 33,047,245 (GRCm39)	I403V	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pira13	T	A	7: 3,827,580 (GRCm39)	R192S	unknown	Het
Plat	A	G	8: 23,268,133 (GRCm39)	R300G	probably damaging	Het
Ppid	T	C	3: 79,505,059 (GRCm39)	I134T	probably damaging	Het
Rad51ap2	A	G	12: 11,507,772 (GRCm39)	I565V	probably benign	Het
Rasa1	T	C	13: 85,403,575 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,345,613 (GRCm39)	W490*	probably null	Het
Septin3	A	G	15: 82,173,439 (GRCm39)	Y257C	probably damaging	Het
Sh3rf2	C	A	18: 42,274,161 (GRCm39)	F442L	probably benign	Het
Sipa1l1	A	G	12: 82,388,792 (GRCm39)	I339M	possibly damaging	Het
Six2	T	C	17: 85,995,196 (GRCm39)	N62S	possibly damaging	Het
Slc44a5	T	C	3: 153,964,678 (GRCm39)	I526T	probably benign	Het
Smarca5	T	C	8: 81,447,378 (GRCm39)	S402G	probably benign	Het
Son	T	A	16: 91,452,645 (GRCm39)	V464E	possibly damaging	Het
Sorcs3	A	G	19: 48,785,950 (GRCm39)	K1144E	probably damaging	Het
Stxbp6	A	G	12: 44,902,659 (GRCm39)	L204P	probably damaging	Het
Tchh	A	G	3: 93,351,570 (GRCm39)	R337G	unknown	Het
Tgm4	T	C	9: 122,885,697 (GRCm39)	V413A	possibly damaging	Het
Tmem131	G	A	1: 36,858,236 (GRCm39)	Q704*	probably null	Het
Tmpo	T	C	10: 90,998,825 (GRCm39)	K321E	probably damaging	Het
Trim75	G	T	8: 65,435,315 (GRCm39)	N378K	probably benign	Het
Tspan18	T	A	2: 93,036,065 (GRCm39)	I227F	probably benign	Het
Ttn	C	T	2: 76,541,526 (GRCm39)	W33820*	probably null	Het
Urb2	T	A	8: 124,774,034 (GRCm39)	Y1522N	probably damaging	Het
Zbtb40	T	C	4: 136,745,620 (GRCm39)	N138D	probably benign	Het
Zfp715	A	T	7: 42,947,328 (GRCm39)	H877Q	possibly damaging	Het

Other mutations in Efhc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Efhc1	APN	1	21,049,705 (GRCm39)	nonsense	probably null
IGL00549:Efhc1	APN	1	21,049,705 (GRCm39)	nonsense	probably null
IGL01611:Efhc1	APN	1	21,060,911 (GRCm39)	makesense	probably null
IGL01916:Efhc1	APN	1	21,048,973 (GRCm39)	missense	probably damaging	1.00
IGL02366:Efhc1	APN	1	21,030,486 (GRCm39)	missense	probably damaging	0.99
IGL02567:Efhc1	APN	1	21,043,188 (GRCm39)	missense	probably damaging	0.98
IGL02590:Efhc1	APN	1	21,037,608 (GRCm39)	missense	probably damaging	1.00
IGL02869:Efhc1	APN	1	21,037,567 (GRCm39)	missense	probably damaging	0.96
IGL03264:Efhc1	APN	1	21,037,715 (GRCm39)	missense	probably benign
IGL03292:Efhc1	APN	1	21,030,496 (GRCm39)	missense	possibly damaging	0.89
IGL03097:Efhc1	UTSW	1	21,043,049 (GRCm39)	missense	probably damaging	1.00
P0023:Efhc1	UTSW	1	21,025,751 (GRCm39)	missense	probably benign
R0180:Efhc1	UTSW	1	21,037,713 (GRCm39)	missense	probably benign
R0220:Efhc1	UTSW	1	21,037,582 (GRCm39)	missense	probably damaging	0.98
R0391:Efhc1	UTSW	1	21,030,412 (GRCm39)	missense	probably damaging	1.00
R0765:Efhc1	UTSW	1	21,048,876 (GRCm39)	missense	probably benign	0.00
R1293:Efhc1	UTSW	1	21,048,996 (GRCm39)	missense	probably damaging	0.96
R1414:Efhc1	UTSW	1	21,031,513 (GRCm39)	missense	probably damaging	1.00
R1644:Efhc1	UTSW	1	21,037,625 (GRCm39)	nonsense	probably null
R1799:Efhc1	UTSW	1	21,049,762 (GRCm39)	missense	probably benign	0.00
R1932:Efhc1	UTSW	1	21,037,624 (GRCm39)	missense	probably damaging	1.00
R1991:Efhc1	UTSW	1	21,059,784 (GRCm39)	nonsense	probably null
R2103:Efhc1	UTSW	1	21,059,784 (GRCm39)	nonsense	probably null
R3956:Efhc1	UTSW	1	21,048,890 (GRCm39)	missense	probably damaging	0.96
R4812:Efhc1	UTSW	1	21,060,871 (GRCm39)	missense	probably damaging	0.99
R5064:Efhc1	UTSW	1	21,045,187 (GRCm39)	missense	possibly damaging	0.91
R5562:Efhc1	UTSW	1	21,043,104 (GRCm39)	missense	probably damaging	0.98
R5800:Efhc1	UTSW	1	21,049,005 (GRCm39)	missense	probably benign	0.00
R5948:Efhc1	UTSW	1	21,043,052 (GRCm39)	missense	probably damaging	0.99
R5977:Efhc1	UTSW	1	21,030,442 (GRCm39)	missense	probably damaging	1.00
R6313:Efhc1	UTSW	1	21,049,652 (GRCm39)	missense	possibly damaging	0.69
R6375:Efhc1	UTSW	1	21,043,164 (GRCm39)	missense	probably benign	0.05
R6512:Efhc1	UTSW	1	21,030,573 (GRCm39)	missense	probably damaging	0.99
R6530:Efhc1	UTSW	1	21,031,366 (GRCm39)	splice site	probably null
R6865:Efhc1	UTSW	1	21,030,442 (GRCm39)	missense	probably damaging	1.00
R7398:Efhc1	UTSW	1	21,059,744 (GRCm39)	missense	probably benign
R7656:Efhc1	UTSW	1	21,031,281 (GRCm39)	splice site	probably null
R7676:Efhc1	UTSW	1	21,037,593 (GRCm39)	missense	probably damaging	1.00
R7719:Efhc1	UTSW	1	21,049,744 (GRCm39)	missense	probably benign
R7775:Efhc1	UTSW	1	21,049,685 (GRCm39)	missense	probably damaging	1.00
R7778:Efhc1	UTSW	1	21,049,685 (GRCm39)	missense	probably damaging	1.00
R7824:Efhc1	UTSW	1	21,049,685 (GRCm39)	missense	probably damaging	1.00
R7857:Efhc1	UTSW	1	21,045,226 (GRCm39)	missense	probably benign	0.11
R7970:Efhc1	UTSW	1	21,022,019 (GRCm39)	missense	probably benign	0.12
R8187:Efhc1	UTSW	1	21,030,396 (GRCm39)	missense	probably damaging	1.00
R8485:Efhc1	UTSW	1	21,030,460 (GRCm39)	missense	possibly damaging	0.95
R8752:Efhc1	UTSW	1	21,059,692 (GRCm39)	missense	probably benign
R8862:Efhc1	UTSW	1	21,037,573 (GRCm39)	missense
R9086:Efhc1	UTSW	1	21,025,592 (GRCm39)	missense	probably damaging	1.00
R9619:Efhc1	UTSW	1	21,037,603 (GRCm39)	missense	probably benign	0.03
R9625:Efhc1	UTSW	1	21,049,738 (GRCm39)	missense	probably benign	0.00
R9747:Efhc1	UTSW	1	21,048,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGAGGAGCATTACCGAATC -3'
(R):5'- CACATGTGTGCACGTTAACAC -3'

Sequencing Primer
(F):5'- TTACCGAATCCGCCACGTG -3'
(R):5'- GTTAACACAAACACTAACCTGCTTAG -3'

Posted On

2022-04-18